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Phenotypes for disease #00714 (RSTS1 (Rubinstein-Taybi syndrome, type 1), OMIM:180849)
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Protein
: result from protein staining
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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30 entries on 1 page. Showing entries 1 - 30.
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Legend
How to query
Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
0000045226
-
-
-
Isolated (sporadic)
-
-
-
-
-
Johan den Dunnen
00058635
0000045227
-
-
-
Isolated (sporadic)
-
-
-
-
-
Johan den Dunnen
00058636
0000045228
-
-
-
Isolated (sporadic)
-
-
-
-
-
Johan den Dunnen
00058637
0000045229
-
-
-
Isolated (sporadic)
-
-
-
-
-
Johan den Dunnen
00058638
0000045230
-
-
-
Isolated (sporadic)
-
-
-
-
-
Johan den Dunnen
00058639
0000045286
-
-
-
Isolated (sporadic)
-
-
-
-
-
Martine van Belzen
00058695
0000045287
-
-
-
Isolated (sporadic)
-
-
-
-
-
Martine van Belzen
00058696
0000045288
-
-
-
Unknown
-
-
-
-
-
Martine van Belzen
00058697
0000045289
-
-
-
Unknown
-
-
-
-
-
Martine van Belzen
00058698
0000045290
-
-
-
Isolated (sporadic)
-
-
-
-
-
Martine van Belzen
00058699
0000045291
-
-
-
Unknown
-
-
-
-
-
Martine van Belzen
00058700
0000045292
-
-
-
Unknown
-
-
-
-
-
Martine van Belzen
00058701
0000045293
-
-
-
Unknown
-
-
-
-
-
Martine van Belzen
00058702
0000045294
-
-
-
Isolated (sporadic)
-
-
-
-
-
Martine van Belzen
00058703
0000045295
-
-
-
Unknown
-
-
-
-
-
Martine van Belzen
00058704
0000045342
-
-
-
Isolated (sporadic)
-
-
-
-
-
Martine van Belzen
00058751
0000045343
-
-
-
Unknown
-
-
-
-
-
Martine van Belzen
00058752
0000045344
-
-
-
Unknown
-
-
-
-
-
Martine van Belzen
00058753
0000045345
-
-
-
Unknown
-
-
-
-
-
Martine van Belzen
00058754
0000045358
-
-
-
Isolated (sporadic)
-
-
-
-
-
Martine van Belzen
00058767
0000060397
Rubinstein-Taybi syndrome (OMIM:180849)
-
-
Familial, autosomal dominant
-
-
-
-
-
Daniel Trujillano
00080828
0000087207
mild (IQ:50-80) mental retardation
-
-
Isolated (sporadic)
-
-
-
-
-
Gwenael Le Guyader
00110780
0000087209
-
-
-
Isolated (sporadic)
-
-
-
-
-
Johan den Dunnen
00110821
0000087210
-
-
-
Isolated (sporadic)
-
-
-
-
-
Martine van Belzen
00110861
0000087211
-
-
-
Isolated (sporadic)
-
-
-
-
-
Martine van Belzen
00110888
0000232041
-
-
-
Unknown
-
-
-
-
-
Sha Hong
00306193
0000319106
Global developmental delay, Autistic behavior, Unilateral renal agenesis, Esophageal atresia, Sleep disturbance, Impaired social interactions, Constipation, Hyperactivity, Delayed speech and language development, high forehead, backward rotated ears, corners of the mouth turned downwards
-
-
Unknown
02y
-
-
-
-
Andreas Laner
00428194
0000326327
Premature birth, Small for gestational age, Bilateral sensorineural hearing impairment, Microcephaly, Neurodevelopmental delay, Intellectual disability, Delayed speech and language development, Generalized-onset seizure
-
-
Isolated (sporadic)
07y
-
-
-
-
Andreas Laner
00436143
0000337546
Abnormality of prenatal development or birth, Short fetal femur length, Short fetal humerus length, Polyhydramnios, Single umbilical artery, Malposition of the stomach, Dextrocardia
-
-
Unknown
23+3
-
-
-
-
Andreas Laner
00448355
0000351462
Global developmental delay, Atypical behavior, Abnormality of the face, Clinodactyly, Sensorineural hearing impairment, Intellectual disability, Bicuspid aortic valve, Cryptorchidism
-
-
Isolated (sporadic)
12y
-
-
-
-
Andreas Laner
00466078
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